A variant by any name: quantifying annotation discordance across tools and clinical databases

BACKGROUND: Clinical genomic testing is dependent on the robust identification and reporting of variant-level information in relation to disease. With the shift to high-throughput sequencing, a major challenge for clinical diagnostics is the cross-identification of variants called on their genomic p...

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Detalles Bibliográficos
Autores principales: Yen, Jennifer L., Garcia, Sarah, Montana, Aldrin, Harris, Jason, Chervitz, Stephen, Morra, Massimo, West, John, Chen, Richard, Church, Deanna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5267466/
https://www.ncbi.nlm.nih.gov/pubmed/28122645
http://dx.doi.org/10.1186/s13073-016-0396-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5267466/
https://www.ncbi.nlm.nih.gov/pubmed/28122645
http://dx.doi.org/10.1186/s13073-016-0396-7

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